Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine-mapping in the MHC and genomewide.

Because transethnic analysis may facilitate prioritization of causal genetic variants, we performed a genomewide association study (GWAS) of psoriasis in South Asians (SAS), consisting of 2,590 cases and 1,720 controls. Comparison with our existing European-origin (EUR) GWAS showed that effect sizes of known psoriasis signals were highly correlated in SAS and EUR (Spearman ρ = 0.78; < 2 × 10).

Identification of a novel homozygous mutation in transmembrane channel like 1 () gene, one of the second-tier hearing loss genes after in India.

Background & Objectives: Hearing impairment is a common and heterogeneous sensory disorder in humans. Among about 90 genes, which are known to be associated with hearing impairment, mutations in the GJB2 (gap junction protein beta 2) gene are the most prevalent in individuals with hereditary hearing loss. Contribution of the other deafness-causing genes is relatively poorly understood.

Application of chromosomal microarrays in the evaluation of intellectual disability/global developmental delay patients - A study from a tertiary care genetic centre in India.

Intellectual disability (ID)/Global developmental delay (GDD) is a diverse group of disorders in terms of cognitive and non-cognitive functions and can occur with or without associated co-morbidities. It affects 1-3% of individuals globally and in at least 30-50% of cases the etiology remains unexplained. The widespread use of chromosomal microarray analysis (CMA) in a clinical setting has allowed the identification of submicroscopic copy number variations (CNVs), throughout the genome, associated with neurodevelopmental phenotypes including ID/GDD.

Williams-Beuren Syndrome: Experience of 43 Patients and a Report of an Atypical Case from a Tertiary Care Center in India.

Williams-Beuren syndrome (WBS) or Williams syndrome (OMIM 194050) is a multisystem disorder manifested by neurodevelopmental delay and is caused by a hemizygous deletion of ∼ 1.5-1.8 Mb in the 7q11.

Sequential occurrence of preneoplastic lesions and accumulation of loss of heterozygosity in patients with gallbladder stones suggest causal association with gallbladder cancer.

Background: Causal association of gallbladder stones with gallbladder cancer (GBC) is not yet well established.

Objective: To study the frequency of occurrence of preneoplastic histological lesions and loss of heterozygosity (LOH) of tumor suppressor genes in patients with gallstones.

Methods: All consecutive patients with gallstones undergoing cholecystectomy from 2007-2011 were included prospectively.

Domino ring-opening metathesis-ring-closing metathesis of bicyclo[2.2.2]octene derivatives: scope and limitations.

Domino metathesis involving ring-opening metathesis-ring-closing metathesis (ROM-RCM) of a bicyclo[2.2.2]octene derivative having an appropriate alkene chain, expected to produce a 7/6 fused bicyclic system, provided a decalin system in contrast to ROM-RCM of the corresponding bicyclo[2.

Norrie disease: first mutation report and prenatal diagnosis in an Indian family.

Norrie Disease (ND) is a rare X-linked recessive disorder characterised by congenital blindness due to severe retinal dysgenesis. Hearing loss and intellectual disability is present in 30-50 % cases. ND is caused by mutations in the NDP gene, located at Xp11.

Brachytelephalangic chondrodysplasia punctata: a case series to further delineate the phenotype.

Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes.

Background: Recessive mutant alleles of MYO7A, USH1C, CDH23, and PCDH15 cause non-syndromic deafness or type 1 Usher syndrome (USH1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. For CDH23, encoding cadherin 23, non-syndromic DFNB12 deafness is associated primarily with missense mutations hypothesised to have residual function. In contrast, homozygous nonsense, frame shift, splice site, and some missense mutations of CDH23, all of which are presumably functional null alleles, cause USH1D.

Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.

Background: X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene.

Molecular genetic studies in Indian patients with megalencephalic leukoencephalopathy.

Mutations in the MLC1 gene cause megalencephalic leukoencephalopathy with subcortical cysts. We sought to identify mutations in the MLC1 gene, to evaluate the genotype-phenotype correlation, and to develop a strategy for diagnosing Indian patients with megalencephalic leukoencephalopathy. Forty patients were enrolled.

Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.

Introduction: Rett syndrome (RS), an X-linked neurodevelopmental disorder and the common cause of mental retardation in females, is caused by methyl CpG binding protein 2 (MECP2) gene mutations with a frequency of more than 95% in classical Rett patients. Majority of RS cases are sporadic but few familial cases caused by either skewed X-chromosome inactivation in healthy female carriers or mosaicism in male carriers are also reported. Most of the times, the mutation carried in a family is the same as found in affected child.

A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis.

Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article reports a family with a 9-year-old boy with Rett-like phenotype and congenital blindness, who inherited a novel MECP2 variant (p.

Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population.

Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in arylsulfatase A (ARSA) gene. No work on molecular genetics of MLD has been reported from India and the mutational spectrum in Indian patients is not known. The present study was undertaken to identify mutations in arylsulfatase A gene in Indian MLD patients, to evaluate genotype-phenotype correlation, and to see the effect of the novel mutants on the protein.

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

A gene causing autosomal-recessive, nonsyndromic hearing loss, DFNB39, was previously mapped to an 18 Mb interval on chromosome 7q11.22-q21.12.

Three novel variants in X-linked adrenoleukodystrophy.

X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy from India. Here, we report 3 novel variants (c.

Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin.

Rett syndrome (RS) is an X-linked dominant neurodevelopment disorder with normal prenatal and postnatal development till 6-18 months, followed by stagnation and regression of acquired skills. RS primarily manifests in females, and there are a few reports with males having RS. Sporadic or de novo mutations of the methyl CpG binding protein 2 (MECP2) gene have been reported in 70-90% of affected girls.

Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearing.

Human MYO15A is located on chromosome 17p11.2, has 66 exons and encodes unconventional myosin XVA. Recessive mutations of MYO15A are associated with profound, nonsyndromic hearing loss DFNB3 in humans, and deafness and circling behavior in shaker 2 mice.